The MMACHC gene homepage

General information
Gene symbol MMACHC
Gene name methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Chromosome 1
Chromosomal band p34.1
Imprinted Unknown
Genomic reference NG_013378.1
Transcript reference NM_015506.2
Associated with diseases ID, aciduria, methylmalonic, and homocystinuria, cblC type
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 156
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 3
Date created November 30, -0001
Date last updated September 28, 2016
Version MMACHC:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:24525
Entrez Gene 25974
PubMed articles MMACHC
OMIM - Gene 609831
OMIM - Diseases aciduria, methylmalonic, and homocystinuria, cblC type


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022052 1 methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria NM_015506.2 NP_056321.2 156